Pepper Edward J, Pathmanathan Sasi, McIlrae Shona, Rehman Faiz-Ur, Cardno Alastair G
Division of Psychiatry and Behavioural Sciences, Faculty of Medicine and Health, Leeds Institute of Health Sciences, University of Leeds, Leeds, United Kingdom.
Lancashire Care NHS Foundation Trust, Preston, United Kingdom.
Am J Med Genet B Neuropsychiatr Genet. 2018 Jul;177(5):503-510. doi: 10.1002/ajmg.b.32640.
Concordance for schizophrenia is high in monozygotic twins but the extent to which concordance varies according to the presence of other schizophrenia risk factors is not well established. We aimed to investigate this in systematically ascertained twin samples. DSM-III-R/DSM-IV diagnoses were made from original data or published case histories from four systematically ascertained monozygotic twin samples. Probandwise concordance for schizophrenia was calculated according to the presence of psychotic disorder in first-degree relatives, birth order, gender, and age-at-onset. Logistic regression analysis was also performed to adjust for potential confounders. Psychotic disorder in parents and earlier age-at-onset were significantly associated with higher probandwise concordance for schizophrenia, including after adjustment for potential confounders. For example, when no parents had a psychotic disorder concordance was 34/88 (38.6%) versus 10/16 (62.5%) when one parent was affected; and for age-at-onset <23 years concordance was 25/46 (54.3%), declining to 13/44 (29.5%) for age-at-onset >30 years. These results are consistent with psychotic disorder in parents and age-at-onset being markers of the level of familial liability to schizophrenia and these factors may be useful in genetic counseling of monozygotic twins and in identifying and managing those at particularly high risk, if these findings are further replicated.
精神分裂症在同卵双胞胎中的一致性很高,但一致性根据其他精神分裂症风险因素的存在而变化的程度尚未完全明确。我们旨在对系统确定的双胞胎样本进行调查。根据四个系统确定的同卵双胞胎样本的原始数据或已发表的病例史做出了DSM-III-R/DSM-IV诊断。根据一级亲属中精神障碍的存在、出生顺序、性别和发病年龄计算了精神分裂症的先证者一致性。还进行了逻辑回归分析以调整潜在的混杂因素。父母患有精神障碍和较早的发病年龄与精神分裂症更高的先证者一致性显著相关,包括在调整潜在混杂因素之后。例如,当父母均无精神障碍时,一致性为34/88(38.6%),而当一方父母患病时为10/16(62.5%);发病年龄<23岁时,一致性为25/46(54.3%),发病年龄>30岁时降至13/44(29.5%)。这些结果与父母的精神障碍和发病年龄是精神分裂症家族易感性水平的标志物一致,如果这些发现得到进一步重复,这些因素可能在同卵双胞胎的遗传咨询以及识别和管理那些风险特别高的个体方面有用。